Incidental Mutation 'IGL01866:Stt3a'
ID 178512
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stt3a
Ensembl Gene ENSMUSG00000032116
Gene Name STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)
Synonyms Itm1
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # IGL01866
Quality Score
Status
Chromosome 9
Chromosomal Location 36729344-36767679 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36734366 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 676 (D676E)
Ref Sequence ENSEMBL: ENSMUSP00000113116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120381]
AlphaFold P46978
Predicted Effect probably benign
Transcript: ENSMUST00000120381
AA Change: D676E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113116
Gene: ENSMUSG00000032116
AA Change: D676E

DomainStartEndE-ValueType
Pfam:STT3 17 484 2e-163 PFAM
Pfam:PMT_2 97 257 9.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135934
SMART Domains Protein: ENSMUSP00000117794
Gene: ENSMUSG00000032116

DomainStartEndE-ValueType
Pfam:STT3 1 112 1.8e-45 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a catalytic subunit of the N-oligosaccharyltransferase (OST) complex, which functions in the endoplasmic reticulum to transfer glycan chains to asparagine residues of target proteins. A separate complex containing a similar catalytic subunit with an overlapping function also exists. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430007A20Rik T C 4: 144,528,549 Y180H possibly damaging Het
Abi3bp A T 16: 56,671,973 I1361L probably benign Het
Amph A T 13: 19,142,002 D634V probably damaging Het
Ank1 G A 8: 23,093,855 V317I possibly damaging Het
Ap4e1 G A 2: 127,046,910 V460I possibly damaging Het
Arhgap19 A T 19: 41,786,577 H198Q probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cacna1g C T 11: 94,457,111 G717D probably damaging Het
Camkk2 A G 5: 122,763,950 S99P probably damaging Het
Catsperb T A 12: 101,509,311 Y371* probably null Het
Cbl A T 9: 44,153,825 C735* probably null Het
Ccdc146 C A 5: 21,333,054 A91S probably damaging Het
Col1a2 G T 6: 4,524,132 D531Y probably damaging Het
Dscam T A 16: 96,685,350 T1042S probably benign Het
Dtnb A G 12: 3,732,626 Y363C probably benign Het
Ear10 A G 14: 43,923,328 L14P probably damaging Het
Egf A G 3: 129,735,880 S294P probably benign Het
Erbb3 T C 10: 128,569,368 *1340W probably null Het
Fam217b A G 2: 178,420,431 T63A probably benign Het
Fig4 G A 10: 41,232,164 P680L possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm6882 T A 7: 21,427,587 I119F probably damaging Het
Hdac10 C A 15: 89,124,533 G442W probably damaging Het
Mc2r C T 18: 68,407,423 M266I possibly damaging Het
Mep1b A G 18: 21,094,993 Q551R probably benign Het
Mtrf1 T A 14: 79,401,508 C27S probably benign Het
Myo5c T A 9: 75,269,582 M603K probably benign Het
Nuf2 A G 1: 169,498,838 L448P possibly damaging Het
Olfr1535 T C 13: 21,555,173 N283S probably benign Het
Olfr390 A T 11: 73,787,828 I297L probably benign Het
Olfr517 C T 7: 108,868,799 M118I possibly damaging Het
Olfr952 A T 9: 39,426,729 M114K probably damaging Het
Ppp2r5c T C 12: 110,567,827 Y375H probably benign Het
Pstpip2 A G 18: 77,877,625 I317M probably benign Het
Pxdn A G 12: 29,984,571 T208A probably benign Het
Rab3gap1 C T 1: 127,891,080 H116Y probably damaging Het
Rarb T A 14: 16,443,751 D179V probably benign Het
Rasal1 G A 5: 120,675,423 A621T probably damaging Het
Rnf6 G A 5: 146,210,907 R434C probably damaging Het
Scn10a C A 9: 119,635,502 E1011* probably null Het
Sec24d C T 3: 123,293,595 Q137* probably null Het
Slc35g1 C A 19: 38,403,194 A308E probably damaging Het
Smtnl1 C A 2: 84,818,745 C55F possibly damaging Het
Sytl2 T C 7: 90,381,839 probably benign Het
Trabd2b A G 4: 114,408,920 T44A probably damaging Het
Trim12a T C 7: 104,304,153 probably benign Het
Tti1 A T 2: 158,007,698 D540E probably benign Het
Tubgcp6 A G 15: 89,103,488 V1094A probably benign Het
Vmn1r34 A G 6: 66,637,389 Y122H probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp579 T A 7: 4,994,258 Q218L possibly damaging Het
Other mutations in Stt3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02237:Stt3a APN 9 36749637 nonsense probably null
IGL02644:Stt3a APN 9 36752353 missense possibly damaging 0.70
IGL02710:Stt3a APN 9 36758745 missense probably damaging 0.99
IGL03085:Stt3a APN 9 36732970 intron probably benign
IGL03180:Stt3a APN 9 36759256 missense probably damaging 1.00
IGL03295:Stt3a APN 9 36763331 splice site probably null
Scramble UTSW 9 36735466 missense probably damaging 1.00
Western UTSW 9 36735386 missense probably damaging 1.00
R0314:Stt3a UTSW 9 36749545 intron probably benign
R0731:Stt3a UTSW 9 36735512 missense probably damaging 1.00
R1188:Stt3a UTSW 9 36751340 missense probably damaging 1.00
R1797:Stt3a UTSW 9 36743415 critical splice donor site probably null
R1846:Stt3a UTSW 9 36763385 missense probably damaging 1.00
R2152:Stt3a UTSW 9 36747996 missense probably damaging 1.00
R2220:Stt3a UTSW 9 36749551 critical splice donor site probably null
R2317:Stt3a UTSW 9 36748075 missense probably benign 0.08
R3689:Stt3a UTSW 9 36759322 missense probably damaging 1.00
R4299:Stt3a UTSW 9 36763344 missense probably damaging 1.00
R4586:Stt3a UTSW 9 36741793 missense probably damaging 1.00
R4595:Stt3a UTSW 9 36735512 missense probably damaging 1.00
R4689:Stt3a UTSW 9 36732929 missense possibly damaging 0.91
R4736:Stt3a UTSW 9 36749712 missense probably benign 0.01
R5145:Stt3a UTSW 9 36735466 missense probably damaging 1.00
R5208:Stt3a UTSW 9 36746595 missense possibly damaging 0.78
R5665:Stt3a UTSW 9 36759314 missense probably damaging 1.00
R5748:Stt3a UTSW 9 36752400 missense probably benign 0.21
R6341:Stt3a UTSW 9 36751296 missense probably damaging 1.00
R6853:Stt3a UTSW 9 36741727 missense possibly damaging 0.89
R6859:Stt3a UTSW 9 36735386 missense probably damaging 1.00
R7453:Stt3a UTSW 9 36747970 missense possibly damaging 0.91
R7495:Stt3a UTSW 9 36747939 missense probably benign 0.03
R7745:Stt3a UTSW 9 36751239 nonsense probably null
R8007:Stt3a UTSW 9 36741769 missense probably damaging 1.00
R9176:Stt3a UTSW 9 36751296 missense probably damaging 1.00
R9218:Stt3a UTSW 9 36759260 missense probably damaging 0.98
R9552:Stt3a UTSW 9 36734379 missense probably benign 0.00
R9622:Stt3a UTSW 9 36749729 missense possibly damaging 0.95
R9784:Stt3a UTSW 9 36758783 missense probably damaging 0.97
Posted On 2014-05-07